Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
A novel CASR mutation in a Tunisian FHH/NSHPT family associated with a mental retardation.
[familial hypocalciuric hypercalcemia]
The
calcium-sensing
receptor
(
CASR
)
,
a
plasma
membrane
G-
protein
coupled
receptor
,
is
expressed
in
parathyroid
gland
and
kidney
,
and
controls
systemic
calcium
homeostasis
.
Inactivating
CASR
mutations
have
previously
been
identified
in
patients
with
familial
hypocalciuric
hypercalcemia
(
FHH
)
and
neonatal
severe
hyperparathyroidism
(
NSHPT
)
.
The
aim
of
the
present
study
is
to
determine
the
underlying
molecular
defect
of
FHH
/
NSHPT
disease
in
a
consanguineous
Tunisian
family
.
Mutation
screening
was
carried
out
using
RFLP-PCR
and
direct
sequencing
.
We
found
that
the
proband
is
homozygous
for
a
novel
15
bp
deletion
in
the
exon
7
(
c
.
1952
_
1966
del
)
confirming
the
diagnosis
of
NSHPT
.
All
the
FHH
members
were
found
to
be
heterozygous
for
the
novel
detected
mutation
.
The
mutation
,
p
.
S
651
_
L
655
del
,
leads
to
the
deletion
of
5
codons
in
the
second
trans-membrane
domain
of
the
CASR
which
is
thought
to
be
involved
in
the
processes
of
ligand-induced
signaling
.
This
alteration
was
associated
with
the
evidence
of
mental
retardation
in
the
FHH
carriers
and
appears
to
be
a
novel
inactivating
mutation
in
the
CASR
gene
.
Our
findings
provide
additional
support
for
the
implication
of
CASR
gene
in
the
FHH
/
NSHPT
pathogenesis
.
Diseases
Validation
Diseases presenting
"mental retardation"
symptom
achondroplasia
alexander disease
alpha-thalassemia
aniridia
aromatase deficiency
canavan disease
classical phenylketonuria
coats disease
cohen syndrome
cowden syndrome
cystinuria
dentin dysplasia
familial hypocalciuric hypercalcemia
homocystinuria without methylmalonic aciduria
hydrocephalus with stenosis of the aqueduct of sylvius
kabuki syndrome
kallmann syndrome
lamellar ichthyosis
lymphangioleiomyomatosis
monosomy 21
phenylketonuria
primary hyperoxaluria type 1
proteus syndrome
pyruvate dehydrogenase deficiency
sneddon syndrome
triple a syndrome
wolf-hirschhorn syndrome
zellweger syndrome
This symptom has already been validated